MCID: HRD002
MIFTS: 56

Hereditary Angioedema

Categories: Rare diseases, Bone diseases, Immune diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Hereditary Angioedema

MalaCards integrated aliases for Hereditary Angioedema:

Name: Hereditary Angioedema 12 76 53 25 59 37 6 15
Hereditary Angioneurotic Edema 12 53 25 59
Hane 12 53 25
Hae 53 25 59
Angioedemas, Hereditary 44 73
Angioedema, Hereditary 53 55
Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor 73
Hereditary Non Histamine-Induced Angioedema 59
Hereditary Bradykinine-Induced Angioedema 59
Hereditary Angioedema Types I and Ii 73
Deficiency of C1 Esterase Inhibitor 53
C1 Esterase Inhibitor Deficiency 25
Hereditary Angioedema Type 1 53
Familial Angioneurotic Edema 59
C1 Inhibitor Deficiency 25

Characteristics:

Orphanet epidemiological data:

59
hereditary angioedema
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-9/100000 (Denmark),1-9/100000 (Norway),1-9/100000 (Spain); Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:14735
MeSH 44 D054179
NCIt 50 C84758
SNOMED-CT 68 82966003
Orphanet 59 ORPHA91378
ICD10 via Orphanet 34 D84.1
UMLS via Orphanet 74 C0019243
KEGG 37 H01006

Summaries for Hereditary Angioedema

NIH Rare Diseases : 53 Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway. HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels. This condition is inherited in an autosomal dominant pattern.There are three types of HAE, types I, II, and III. The types can be distinguished by their underlying causes and levels of C1 inhibitor in the blood. Type I and II are caused by mutations in the SERPING1 gene. Some cases of type III are associated with mutations in the F12 gene. Other genes are likely to be identified as the cause of other cases of HAE type III.

MalaCards based summary : Hereditary Angioedema, also known as hereditary angioneurotic edema, is related to angioedema, hereditary, type i and acquired angioedema. An important gene associated with Hereditary Angioedema is F12 (Coagulation Factor XII), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Icatibant and Omalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and endothelial, and related phenotypes are facial edema and ascites

Genetics Home Reference : 25 Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway. Minor trauma or stress may trigger an attack, but swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack.

Wikipedia : 76 Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling. The... more...

Related Diseases for Hereditary Angioedema

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I Angioedema, Hereditary, Type Iii
Hereditary Angioedema Acquired Angioedema
Acquired Angioedema Type 1 Acquired Angioedema Type 2

Diseases related to Hereditary Angioedema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, type i 33.6 F12 SERPING1
2 acquired angioedema 30.5 C1S SERPING1
3 allergic urticaria 29.9 KNG1 SERPING1
4 c1 inhibitor deficiency 29.9 BDKRB2 C1S KLKB1 KNG1 SERPING1
5 urticaria 29.8 C1S F12
6 angioedema 27.4 ACE BDKRB2 C1S F12 KLKB1 KNG1
7 angioedema, hereditary, type iii 12.2
8 complement component 4, partial deficiency of 10.5
9 type i 10.3
10 laryngitis 10.2
11 complement deficiency 10.2 KNG1 SERPING1
12 louse-borne relapsing fever 10.1 C4B SERPING1
13 immunodeficiency due to a classical component pathway complement deficiency 10.1 C1S C4B
14 pancreatitis 10.1
15 endotheliitis 10.1
16 acute pancreatitis 10.0
17 lupus erythematosus 10.0
18 lymphoproliferative syndrome 10.0
19 aging 9.9
20 anxiety 9.9
21 arthritis 9.9
22 depression 9.9
23 systemic lupus erythematosus 9.9
24 celiac disease 1 9.9
25 compartment syndrome 9.9
26 thyroiditis 9.9
27 hydrops, lactic acidosis, and sideroblastic anemia 9.8 C1S KNG1 SERPING1
28 pleural disease 9.8 KLKB1 KNG1
29 brain edema 9.8 BDKRB2 KNG1
30 breast cancer 9.7
31 hepatocellular carcinoma 9.7
32 pancreatitis, hereditary 9.7
33 pulmonary hypertension, primary, 1 9.7
34 chiari malformation type ii 9.7
35 lung cancer 9.7
36 fabry disease 9.7
37 helicobacter pylori infection 9.7
38 psoriatic arthritis 9.7
39 membranous nephropathy 9.7
40 adult respiratory distress syndrome 9.7
41 glomerulonephritis 9.7
42 polycystic ovary syndrome 9.7
43 cutaneous lupus erythematosus 9.7
44 purpura fulminans 9.7
45 hypoparathyroidism 9.7
46 bacteriuria 9.7
47 capillary leak syndrome 9.7
48 vaginitis 9.7
49 cervicitis 9.7
50 periarthritis 9.7

Graphical network of the top 20 diseases related to Hereditary Angioedema:



Diseases related to Hereditary Angioedema

Symptoms & Phenotypes for Hereditary Angioedema

Human phenotypes related to Hereditary Angioedema:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000282
2 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
3 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
4 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
5 intestinal edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0005225
6 laryngeal edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0012027
7 angioedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100665
8 edema 59 Very frequent (99-80%)

Drugs & Therapeutics for Hereditary Angioedema

Drugs for Hereditary Angioedema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Icatibant Approved, Investigational Phase 4,Phase 3,Phase 1 138614-30-9, 130308-48-4 71364
2
Omalizumab Approved, Investigational Phase 4 242138-07-4
3
Histidine Approved, Nutraceutical Phase 4 71-00-1 6274
4
Bradykinin Investigational Phase 4,Phase 3,Phase 1 58-82-2 439201
5
Lactitol Investigational Phase 4 585-86-4 3871
6 Analgesics Phase 4,Phase 3,Phase 1
7 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
8 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 1
10 Antirheumatic Agents Phase 4,Phase 3,Phase 1
11 Bradykinin B2 Receptor Antagonists Phase 4,Phase 3,Phase 1
12 Bradykinin Receptor Antagonists Phase 4,Phase 3,Phase 1
13 Complement Inactivating Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Complement System Proteins Phase 4,Phase 3,Phase 2,Phase 1
15 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Kininogens Phase 4,Phase 3,Phase 1
17 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
18 Vasodilator Agents Phase 4,Phase 3,Phase 1
19 Complement C1 Inactivator Proteins Phase 4,Phase 3,Phase 2,Phase 1
20 Complement C1 Inhibitor Protein Phase 4,Phase 3,Phase 2,Phase 1
21 Complement C1s Phase 4,Phase 3,Phase 2,Phase 1
22 Antibodies Phase 4,Phase 1
23 Immunoglobulins Phase 4,Phase 1
24 Anti-Allergic Agents Phase 4
25 Anti-Asthmatic Agents Phase 4
26 Respiratory System Agents Phase 4
27
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
28
Tranexamic Acid Approved Phase 3 1197-18-8 5526
29 tannic acid Approved, Nutraceutical Phase 3
30 Pharmaceutical Solutions Phase 3,Phase 2
31 Antifibrinolytic Agents Phase 3
32 Coagulants Phase 3,Phase 2
33 Fibrinolytic Agents Phase 3,Not Applicable
34 Hemostatics Phase 3
35 Kallikreins Phase 3,Phase 2,Phase 1
36 Plasma Kallikrein Phase 3,Phase 2,Phase 1
37 Passionflower Nutraceutical Phase 3
38
Danazol Approved Phase 2 17230-88-5 28417
39 Estrogen Antagonists Phase 2
40 Estrogen Receptor Modulators Phase 2
41 Estrogens Phase 2
42 Hormone Antagonists Phase 2,Phase 1
43 Hormones Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Fertility Agents Phase 2
46
Digoxin Approved Phase 1 20830-75-5 30322 2724385
47
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
48
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
49
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
50
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 A Call Center During HAE Attacks (SOS HAE) Completed NCT01679912 Phase 4
2 Efficacy, Safety and Tolerability of Icatibant for the Treatment of HAE Completed NCT01457430 Phase 4 Icatibant
3 A Study to Evaluate the Safety and Effect of Escalating Doses of CINRYZE Completed NCT00914966 Phase 4
4 Postmarketing Immunogenicity Study in HAE Subjects Treated With Berinert Completed NCT01467947 Phase 4
5 Treatment of Idiopathic Angioedema With Xolair as Add-on Therapy Recruiting NCT02966314 Phase 4 Omalizumab;Placebos
6 A Study to Evaluate the Benefit of RUCONEST® in Subjects With CVID Who Experience ADRs Related to IVIG Infusions Recruiting NCT03576469 Phase 4
7 C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation Withdrawn NCT01151735 Phase 4 C-1-esterase;C-1-esterase;placebo
8 A Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT01912456 Phase 3
9 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00438815 Phase 3
10 Open-Label C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00462709 Phase 3
11 Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema Completed NCT02584959 Phase 3 C1 esterase inhibitor [human] liquid;Placebo
12 A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema Completed NCT01386658 Phase 3 icatibant
13 Efficacy and Safety Study of DX-2930 to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Completed NCT02586805 Phase 3 DX-2930 - 300mg/2wk;DX-2930 - 300mg/4wk;DX-2930 - 150mg/4wk;Placebo
14 Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema Completed NCT02052141 Phase 3
15 A Study of Icatibant in Patients With Acute Attacks of Hereditary Angioedema (FAST-3) Completed NCT00912093 Phase 3 Icatibant;Placebo
16 A Study to Evaluate the Long-term Clinical Safety and Efficacy of Subcutaneously Administered C1-esterase Inhibitor in the Prevention of Hereditary Angioedema Completed NCT02316353 Phase 3
17 Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE) Completed NCT00456508 Phase 3 ecallantide
18 Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00457015 Phase 3 ecallantide;Phosphate Buffer Saline (PBS), pH 7.0
19 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00225147 Phase 2, Phase 3 Recombinant Human C1 Inhibitor;placebo
20 Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE) Completed NCT02865720 Phase 3 CINRYZE 500 U;CINRYZE 1000 U
21 C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks Completed NCT01005888 Phase 3 Placebo (saline)
22 C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study) Completed NCT00292981 Phase 3 C1 Esterase Inhibitor
23 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00500656 Phase 3 Icatibant;Tranexamic Acid;Oral Placebo;S.C. Placebo
24 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262301 Phase 3 recombinant human C1 inhibitor;Placebo
25 Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE) Completed NCT00262080 Phase 3 ecallantide;Phosphate Buffer Saline (PBS),
26 Human C1 Esterase Inhibitor (C1-INH) in Subjects With Acute Abdominal or Facial Hereditary Angioedema (HAE) Attacks Completed NCT00168103 Phase 2, Phase 3
27 Berinert P Study of Subcutaneous Versus Intravenous Administration Completed NCT00748202 Phase 3 C1-Esterase Inhibitor
28 EASSI - Evaluation of the Safety of Self-Administration With Icatibant Completed NCT00997204 Phase 3 Icatibant
29 Subcutaneous Treatment With Icatibant for Acute Attacks of Hereditary Angioedema Completed NCT00097695 Phase 3 Icatibant;Placebo
30 12-Week Safety and Efficacy Study of BCX4161 as an Oral Prophylaxis Against HAE Attacks Completed NCT02303626 Phase 2, Phase 3 BCX4161;Placebo
31 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00262288 Phase 2, Phase 3 i.v. recombinant human C1 inhibitor
32 C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks Completed NCT00289211 Phase 3 Placebo (saline)
33 Efficacy, Safety and Immunogenicity Study of Recombinant Human C1 Inhibitor for the Treatment of Acute HAE Attacks Completed NCT01188564 Phase 3 rhC1INH;Placebo (Saline)
34 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125151 Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
35 C1-Esteraseremmer-N for the Treatment of Hereditary (and Acquired) Angioedema Completed NCT00125541 Phase 2, Phase 3 C1 inhibitor concentrate (C1-esteraseremmer-N)
36 A Long Term Safety Study of BCX7353 in Hereditary Angioedema Recruiting NCT03472040 Phase 2, Phase 3 BCX7353
37 Efficacy and Safety Study of BCX7353 as an Oral Treatment for the Prevention of Attacks in HAE Recruiting NCT03485911 Phase 3 BCX7353 capsules;Placebo oral capsule
38 Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE Active, not recruiting NCT02741596 Phase 3 DX-2930;DX-2930
39 Open-label, Long-term Safety Study of Avoralstat in Subjects With Hereditary Angioedema Terminated NCT02670720 Phase 3 avoralstat
40 Study to Evaluate Ecallantide in Paediatric Patients With Acute Attacks of Hereditary Angioedema Withdrawn NCT01253382 Phase 2, Phase 3
41 Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema Completed NCT02870972 Phase 2 BCX7353;Placebo
42 CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12 Completed NCT01095510 Phase 2
43 Safety and Efficacy of Oral BCX4161 as a Prophylactic Treatment for HAE Completed NCT01984788 Phase 2 BCX4161;Placebo
44 A Study to Evaluate the Safety and Pharmacology of Subcutaneous Administration of CINRYZE With Recombinant Human Hyaluronidase Completed NCT01426763 Phase 2
45 A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Subcutaneous CINRYZE Administration Completed NCT01095497 Phase 2
46 A Phase 2 HAE Prophylaxis Study With Recombinant Human C1 Inhibitor Completed NCT02247739 Phase 2
47 EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema Completed NCT01826916 Phase 2 DX-88 (ecallantide)
48 A Study to Evaluate the Clinical Pharmacology and Safety of C1-esterase Inhibitor Administered by the Subcutaneous Route Completed NCT01576523 Phase 1, Phase 2
49 Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema Completed NCT00261053 Phase 2 i.v. recombinant human C1 inhibitor
50 Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks Completed NCT01756157 Phase 2

Search NIH Clinical Center for Hereditary Angioedema

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: angioedemas, hereditary

Genetic Tests for Hereditary Angioedema

Anatomical Context for Hereditary Angioedema

MalaCards organs/tissues related to Hereditary Angioedema:

41
Skin, Bone, Endothelial, Testes, Thyroid, Colon, Liver

Publications for Hereditary Angioedema

Articles related to Hereditary Angioedema:

(show top 50) (show all 751)
# Title Authors Year
1
Health-Related Quality-of-Life with Subcutaneous C1-inhibitor for Prevention of Attacks of Hereditary Angioedema. ( 29391286 )
2018
2
Efficacy of C1Inhibitor concentrate in hereditary angioedema with C1Inhibitor deficiency: analysis in the French Cohort. ( 29964227 )
2018
3
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype. ( 29513108 )
2018
4
Plasma Prekallikrein: Its Role in Hereditary Angioedema and Health and Disease. ( 29423395 )
2018
5
Canadian Physician Survey on the Medical Management of Hereditary Angioedema. ( 29958877 )
2018
6
A transcriptomics study of hereditary angioedema attacks. ( 29729940 )
2018
7
Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema. ( 29866145 )
2018
8
Evaluating satisfaction of patients with hereditary angioedema with their past and present treatments: Implications for future therapies. ( 29279063 )
2018
9
Evaluation of avoralstat, an oral kallikrein inhibitor, in a Phase 3 hereditary angioedema prophylaxis trial: The OPuS-2A study. ( 29688579 )
2018
10
Hereditary Angioedema with Normal C1 Inhibitor: Four Types and Counting. ( 29410040 )
2018
11
Exposure-Response Model of Subcutaneous C1-Inhibitor Concentrate to Estimate the Risk of Attacks in Patients With Hereditary Angioedema. ( 29316335 )
2018
12
Impaired Endothelial Function in Hereditary Angioedema During the Symptom-Free Period. ( 29867566 )
2018
13
SERPING1 and F12 combined variants in a hereditary angioedema family<sup>,,a9^a9^a9^,a9^a9^a9^a9^</sup>. ( 29885370 )
2018
14
Use of pdC1-INH concentrate for long-term prophylaxis during pregnancy in hereditary angioedema with normal C1-INH. ( 29439936 )
2018
15
Update on the Use of C1-Esterase Inhibitor Replacement Therapy in the Acute and Prophylactic Treatment of Hereditary Angioedema. ( 29909591 )
2018
16
Clinical Features of Hereditary Angioedema in Korean Patients: A Nationwide Multicenter Study. ( 29694969 )
2018
17
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. ( 29753808 )
2018
18
Icatibant for the treatment of hereditary angioedema with C1-inhibitor deficiency in adolescents and in children aged over 2 years. ( 29757016 )
2018
19
The international WAO/EAACI guideline for the management of hereditary angioedema - the 2017 revision and update. ( 29318628 )
2018
20
Hereditary Angioedema, Clinical Presentation and Socio-Economic Cost of 200 French Patients. ( 29936190 )
2018
21
Investigational drugs in phase I and phase II clinical trials for hereditary angioedema. ( 29226721 )
2018
22
Improving the Management of Hereditary Angioedema. ( 29791522 )
2018
23
The Diagnosis of Hereditary Angioedema: Family Caregivers' Experiences. ( 29862835 )
2018
24
Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4. ( 29058329 )
2018
25
Hereditary angioedema: The plasma contact system out of control. ( 29920929 )
2018
26
A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor. ( 29548426 )
2018
27
Efficacy of recombinant human C1 esterase inhibitor across anatomic locations in acute hereditary angioedema attacks. ( 29954477 )
2018
28
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis. ( 29723342 )
2018
29
New Treatments for Hereditary Angioedema. ( 29357215 )
2018
30
Idiopathic Nonhistaminergic Acquired Angioedema Versus Hereditary Angioedema. ( 29715562 )
2018
31
Suffocation due to Acute Airway Edema in a Patient with Hereditary Angioedema Highlighted the Need for Urgent Improvements in Treatment Availability in Japan. ( 29709957 )
2018
32
Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden. ( 28855002 )
2017
33
Prophylactic Therapy for Hereditary Angioedema. ( 28687109 )
2017
34
Manifestations of hereditary angioedema. ( 28007084 )
2017
35
Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment. ( 28687110 )
2017
36
Disease Severity, Activity, Impact, and Control and How to Assess Them in Patients with Hereditary Angioedema. ( 29255709 )
2017
37
Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). ( 27905115 )
2017
38
Outcomes of long term treatments of type I hereditary angioedema in a Turkish family. ( 29166502 )
2017
39
New Hereditary Angioedema Therapy. ( 28763531 )
2017
40
Hereditary angioedema: Assessing the hypothesis for underlying autonomic dysfunction. ( 29107952 )
2017
41
Hereditary Angioedema: An Overlooked Cause of Recurrent Abdominal Pain and Free Peritoneal Fluid. ( 28780207 )
2017
42
Recombinant human C1 esterase inhibitor for acute hereditary angioedema attacks with upper airway involvement. ( 28903805 )
2017
43
The Search for Biomarkers in Hereditary Angioedema. ( 29214154 )
2017
44
Pregnancy and Postpartum in Hereditary Angioedema With C1 Inhibitor Deficit in Women Who Have No Access to Therapy. ( 29057741 )
2017
45
Efficacy of recombinant human C1 esterase inhibitor for the treatment of severe hereditary angioedema attacks. ( 28874235 )
2017
46
Glucocorticoid receptor gene polymorphisms in hereditary angioedema with C1-inhibitor deficiency. ( 28069032 )
2017
47
An ABC of the Warning Signs of Hereditary Angioedema. ( 28950264 )
2017
48
The Complex Interaction Between Polycystic Ovary Syndrome and Hereditary Angioedema: Case Reports and Review of the Literature. ( 28715060 )
2017
49
Pharmacological Management of Hereditary Angioedema with C1-Inhibitor Deficiency in Pediatric Patients. ( 29214395 )
2017
50
Hereditary angioedema with a mutation in the plasminogen gene. ( 28795768 )
2017

Variations for Hereditary Angioedema

ClinVar genetic disease variations for Hereditary Angioedema:

6
(show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
3 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh37 Chromosome 5, 176830627: 176830627
4 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh38 Chromosome 5, 177403626: 177403626
5 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh37 Chromosome 5, 176831826: 176831826
6 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh38 Chromosome 5, 177404825: 177404825
7 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh37 Chromosome 11, 57381989: 57381989
8 SERPING1 NM_000062.2(SERPING1): c.1438G> A (p.Val480Met) single nucleotide variant Benign rs4926 GRCh38 Chromosome 11, 57614516: 57614516
9 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh38 Chromosome 5, 177397849: 177397849
10 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh37 Chromosome 5, 176824850: 176824850
11 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh38 Chromosome 5, 177398085: 177398085
12 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh37 Chromosome 5, 176825086: 176825086
13 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh37 Chromosome 5, 176831185: 176831185
14 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh38 Chromosome 5, 177404184: 177404184
15 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh37 Chromosome 5, 176831815: 176831815
16 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh38 Chromosome 5, 177404814: 177404814
17 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh37 Chromosome 5, 176832198: 176832198
18 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh38 Chromosome 5, 177405197: 177405197
19 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh37 Chromosome 5, 176836553: 176836553
20 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh38 Chromosome 5, 177409552: 177409552
21 F12; SLC34A1 NM_003052.4(SLC34A1): c.1635C> T (p.Gly545=) single nucleotide variant Benign rs7379524 GRCh38 Chromosome 5, 177398001: 177398001
22 F12; SLC34A1 NM_003052.4(SLC34A1): c.1635C> T (p.Gly545=) single nucleotide variant Benign rs7379524 GRCh37 Chromosome 5, 176825002: 176825002
23 F12; SLC34A1 NM_003052.4(SLC34A1): c.*202A> C single nucleotide variant Benign rs6556319 GRCh38 Chromosome 5, 177398488: 177398488
24 F12; SLC34A1 NM_003052.4(SLC34A1): c.*202A> C single nucleotide variant Benign rs6556319 GRCh37 Chromosome 5, 176825489: 176825489
25 F12; SLC34A1 NM_000505.3(F12): c.1299C> T (p.Asn433=) single nucleotide variant Likely benign rs17876033 GRCh38 Chromosome 5, 177403569: 177403569
26 F12; SLC34A1 NM_000505.3(F12): c.1299C> T (p.Asn433=) single nucleotide variant Likely benign rs17876033 GRCh37 Chromosome 5, 176830570: 176830570
27 F12; SLC34A1 NM_000505.3(F12): c.1251-7C> T single nucleotide variant Likely benign rs375340260 GRCh38 Chromosome 5, 177403624: 177403624
28 F12; SLC34A1 NM_000505.3(F12): c.1251-7C> T single nucleotide variant Likely benign rs375340260 GRCh37 Chromosome 5, 176830625: 176830625
29 F12 NM_000505.3(F12): c.1025C> T (p.Pro342Leu) single nucleotide variant Likely benign rs2230939 GRCh37 Chromosome 5, 176831085: 176831085
30 F12 NM_000505.3(F12): c.1025C> T (p.Pro342Leu) single nucleotide variant Likely benign rs2230939 GRCh38 Chromosome 5, 177404084: 177404084
31 F12 NM_000505.3(F12): c.1018+13G> C single nucleotide variant Likely benign rs552424629 GRCh37 Chromosome 5, 176831184: 176831184
32 F12 NM_000505.3(F12): c.1018+13G> C single nucleotide variant Likely benign rs552424629 GRCh38 Chromosome 5, 177404183: 177404183
33 F12 NM_000505.3(F12): c.756C> T (p.Ala252=) single nucleotide variant Benign rs41309752 GRCh37 Chromosome 5, 176831544: 176831544
34 F12 NM_000505.3(F12): c.756C> T (p.Ala252=) single nucleotide variant Benign rs41309752 GRCh38 Chromosome 5, 177404543: 177404543
35 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh38 Chromosome 5, 177398068: 177398068
36 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh37 Chromosome 5, 176825069: 176825069
37 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh38 Chromosome 5, 177398465: 177398465
38 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh37 Chromosome 5, 176825466: 176825466
39 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh38 Chromosome 5, 177398771: 177398771
40 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh37 Chromosome 5, 176825772: 176825772
41 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh38 Chromosome 5, 177403526: 177403526
42 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh37 Chromosome 5, 176830527: 176830527
43 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh38 Chromosome 5, 177403596: 177403596
44 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh37 Chromosome 5, 176830597: 176830597
45 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh37 Chromosome 5, 176830630: 176830630
46 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh38 Chromosome 5, 177403629: 177403629
47 F12 NM_000505.3(F12): c.1107G> C (p.Ser369=) single nucleotide variant Likely benign rs141473119 GRCh37 Chromosome 5, 176831003: 176831003
48 F12 NM_000505.3(F12): c.1107G> C (p.Ser369=) single nucleotide variant Likely benign rs141473119 GRCh38 Chromosome 5, 177404002: 177404002
49 F12 NM_000505.3(F12): c.930G> C (p.Arg310Ser) single nucleotide variant Likely benign rs77098327 GRCh37 Chromosome 5, 176831285: 176831285
50 F12 NM_000505.3(F12): c.930G> C (p.Arg310Ser) single nucleotide variant Likely benign rs77098327 GRCh38 Chromosome 5, 177404284: 177404284

Expression for Hereditary Angioedema

Search GEO for disease gene expression data for Hereditary Angioedema.

Pathways for Hereditary Angioedema

Pathways related to Hereditary Angioedema according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 F12 KLKB1 KNG1 SERPING1
2
Show member pathways
11.71 C1S C4B SERPING1
3
Show member pathways
11.57 C1S C4B SERPING1
4
Show member pathways
11.46 F12 KLKB1 KNG1 SERPING1
5
Show member pathways
11.4 ACE BDKRB2 KNG1
6 11.31 C1S C4B SERPING1
7 11.31 BDKRB2 C1S C4B F12 KLKB1 KNG1
8 11.2 C1S C4B
9 11.11 F12 KLKB1
10 11.02 F12 KLKB1 SERPING1

GO Terms for Hereditary Angioedema

Cellular components related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 ACE C1S C4B F12 KLKB1 KNG1
2 extracellular region GO:0005576 9.7 ACE C1S C4B F12 KLKB1 KNG1
3 platelet alpha granule lumen GO:0031093 9.32 KNG1 SERPING1
4 blood microparticle GO:0072562 9.26 C1S C4B KNG1 SERPING1
5 extracellular space GO:0005615 9.17 ACE C1S C4B F12 KLKB1 KNG1

Biological processes related to Hereditary Angioedema according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.84 C1S C4B F12 SERPING1
2 proteolysis GO:0006508 9.8 ACE C1S C4B F12 KLKB1
3 inflammatory response GO:0006954 9.73 BDKRB2 C4B KLKB1 KNG1
4 complement activation, classical pathway GO:0006958 9.7 C1S C4B SERPING1
5 negative regulation of endopeptidase activity GO:0010951 9.67 C4B KNG1 SERPING1
6 regulation of complement activation GO:0030449 9.63 C1S C4B SERPING1
7 blood coagulation GO:0007596 9.62 F12 KLKB1 KNG1 SERPING1
8 complement activation GO:0006956 9.58 C1S C4B
9 blood circulation GO:0008015 9.58 BDKRB2 SERPING1
10 arachidonic acid secretion GO:0050482 9.57 ACE BDKRB2
11 regulation of vasoconstriction GO:0019229 9.56 ACE BDKRB2
12 vasodilation GO:0042311 9.55 BDKRB2 KNG1
13 zymogen activation GO:0031638 9.51 F12 KLKB1
14 regulation of blood coagulation GO:0030193 9.48 F12 SERPING1
15 positive regulation of fibrinolysis GO:0051919 9.37 F12 KLKB1
16 fibrinolysis GO:0042730 9.33 F12 KLKB1 SERPING1
17 Factor XII activation GO:0002542 9.26 F12 KLKB1
18 hemostasis GO:0007599 9.26 F12 KLKB1 KNG1 SERPING1
19 blood coagulation, intrinsic pathway GO:0007597 8.92 F12 KLKB1 KNG1 SERPING1

Molecular functions related to Hereditary Angioedema according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.46 ACE C1S F12 KLKB1
2 endopeptidase inhibitor activity GO:0004866 9.26 C4B KNG1
3 serine-type peptidase activity GO:0008236 9.13 C1S F12 KLKB1
4 serine-type endopeptidase activity GO:0004252 8.92 C1S C4B F12 KLKB1

Sources for Hereditary Angioedema

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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